Alkaptonuria Presenting with Impressive Osteoarticular Changes and Severe Aortic Stenosis

Area of Science:

• Biochemistry
• Genetics
• Rheumatology

Background:

• Alkaptonuria (AKU) is a rare autosomal recessive metabolic disorder.
• Characterized by deficiency of the enzyme homogentisate 1,2-dioxygenase (HGD).
• Leads to accumulation of homogentisic acid (HGA) in the body.

Observation:

• The case involves a 78-year-old male patient.
• Presented with significant osteoarticular manifestations.
• Also exhibited aortic stenosis, a known cardiovascular complication of AKU.

Findings:

• Excess HGA deposition causes dark pigmentation and inflammation in cartilaginous tissues.
• Progressive ochronosis leads to severe joint degeneration.
• Cardiovascular involvement, particularly aortic valve disease, is a critical aspect of advanced AKU.

Implications:

• This case underscores the multisystemic impact of alkaptonuria.
• Highlights the importance of early diagnosis and management of AKU complications.
• Emphasizes the need for comprehensive patient care addressing both skeletal and cardiac issues.